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Results 1 - 10 of 11 for Congenital anemia
  1. CDAN1 gene 
    ... CDAN1 gene have been identified in people with congenital dyserythropoietic anemia (CDA) type I. This condition is characterized by ... of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. Blood. 2006 Jun 15;107(12): ...
    https://medlineplus.gov/genetics/gene/cdan1 - Genetics
  2. CDIN1 gene 
    ... CDIN1 gene have been identified in people with congenital dyserythropoietic anemia (CDA) type I. This condition is characterized by ... Risco MB, Alonso-Dominguez JM, Moran-Jimenez MJ. Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in ...
    https://medlineplus.gov/genetics/gene/cdin1 - Genetics
  3. KIF23 gene 
    ... KIF23 gene have been identified in people with congenital dyserythropoietic anemia (CDA) type III. This condition is characterized by ... Sandstrom H, Wahlin A, Mishima M, Golovleva I. Congenital dyserythropoietic anemia type III (CDA III) is caused by a ...
    https://medlineplus.gov/genetics/gene/kif23 - Genetics
  4. SEC23B gene 
    ... SEC23B gene have been identified in people with congenital dyserythropoietic anemia (CDA) type II.This condition is characterized by ... SEC23B NCBI Gene ClinVar Denecke J, Marquardt T. Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now? ...
    https://medlineplus.gov/genetics/gene/sec23b - Genetics
  5. RACGAP1 gene 
    ... RACGAP1 gene have been identified in people with congenital dyserythropoietic anemia (CDA) type III. This condition is characterized by ... Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III. Haematologica. 2023 Feb 1;108(2): ...
    https://medlineplus.gov/genetics/gene/racgap1 - Genetics
  6. KLF1 gene 
    ... KLF1 gene has been identified in people with congenital dyserythropoietic anemia (CDA) type IV. This condition is characterized by ... leads to the characteristic signs and symptoms of anemia and the other features of CDA type IV. More About This Health Condition ... Citation on PubMed Iolascon A, Andolfo I, Russo R. Congenital dyserythropoietic anemias. Blood. 2020 Sep 10;136(11): ...
    https://medlineplus.gov/genetics/gene/klf1 - Genetics
  7. TRNT1 gene 
    ... Holcik M, Fleming MD. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. ...
    https://medlineplus.gov/genetics/gene/trnt1 - Genetics
  8. ALAS2 gene 
    ... aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. Blood. 2003 Jul 15;102(2):698-704. doi: 10.1182/blood-2002-06-1623. Epub 2003 Mar 27. Citation on PubMed Bottomley SS. Congenital sideroblastic anemias. Curr Hematol Rep. 2006 Mar;5( ...
    https://medlineplus.gov/genetics/gene/alas2 - Genetics
  9. EPOR gene 
    ... Rainey S, Lappin TR, Maxwell AP. Pathophysiology of anemia and erythrocytosis. ... primary familial and congenital polycythaemia. Br J Haematol. 2010 Mar;148(6): ...
    https://medlineplus.gov/genetics/gene/epor - Genetics
  10. PIGT gene 
    ... to a shortage of red blood cells (hemolytic anemia) and blood in the urine. Studies ... congenital anomalies-hypotonia-seizures syndrome 3. Affected individuals have ...
    https://medlineplus.gov/genetics/gene/pigt - Genetics
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